Translational read-through therapy of rpgr nonsense mutations

HIGHLIGHTS

• who: Christine Vössing and collaborators from the Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Institute of Molecular Physiology, Johannes Gutenberg-University of Mainz, Mainz, Germany have published the research work: Translational Read-Through Therapy of RPGR Nonsense Mutations, in the Journal: (JOURNAL)
• what: The authors evaluated the potential of a read-through therapy using PTC124 to promote translational read-through in a patient-derived fibroblast cell line that shows a hemizygous nonsense_mutation in exon 10 of the RPGR gene (c.1154T > A, p.Leu385*). of 16 15 33 of The . . .
  

   

  

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